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Human Genome 2.0: ENCODE project debunks ‘junk’ DNA

The concept of junk DNA has been debunked by a massive new genetic mapping project. AAP

DNA previously written off as junk actually acts as a lever controlling genetic activity, leading to health or illness, reveals a massive new genetic mapping project.

It’s been ten years since the human genome project shed light on the role of genes and disease, but scientists say the Encyclopedia of DNA Elements (ENCODE) project, a five-year collaboration of more than 440 scientists in 32 labs around the world, takes scientific understanding to a whole new level.

“The ENCODE pilot project focused on just 1% of the genome — a mere appetizer,” said Joseph Ecker in a paper from project researchers published in Nature today.

“Now the ENCODE consortium presents a menu of 1,640 genome-wide data sets prepared from 147 cell types.”

The research has identified new leads for understanding the genetic basis of many common diseases, such as Type 1 diabetes and obesity.

“This global overview will help us understand how changes in the genome cause disease, and also to see how an individual’s unique genetic code may affect his or her health in meaningful ways,” said research leader and Stanford geneticist Michael Snyder.

It’s an exciting development says Australian researcher Marnie Blewitt.

“Because they’ve got a comprehensive amount of information they’re able to help us understand mutations in diseases that we never understood before,” said Dr Blewitt, who is head of the Molecular Medicine Laboratory at the Walter and Eliza Hall Institute.

“It is a huge leap forward. Before we could understand the sequence, now we understand how those genes are switched on and switched off,” Dr Blewitt said.

She likened the work to a new way of reading words. “It’s like the punctuation at the end of the word - it influences the way you read the word.”

Dr Blewitt said the work would also help advance genome-wide association studies that look at the role of genetics to patients with one disease.

“They’ve been creating ridiculous amounts of data and often we don’t know how to interpret it. This will allow us to go back and reinterpret that data and explore the risk factors for complex diseases that we don’t understand like Type 1 diabetes,” Dr Blewitt said.

The ENCODE catalogue is like Google Maps for the human genome, said Elise Feingold, a program director with America’s National Human Genome Research Institute.

“Simply by selecting the magnification in Google Maps, you can see countries, states, cities, streets, even individual intersections, and by selecting different features, you can get directions, see street names and photos, and get information about traffic and even weather. The ENCODE maps allow researchers to inspect the chromosomes, genes, functional elements and individual nucleotides in the human genome in much the same way.”

However University of Cambridge researcher Ines Barroso writes in Nature that although the ENCODE catalogues represent “a remarkable tour de force”, they deliver only an initial exploration of the depths of our genome, with many more cell types yet to be investigated.

Dr Blewitt said while more work was required, the ENCODE project would enhance everybody’s research and make research go faster.

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